Human autosomal recessive osteopetrosis maps to 11q13, a position predicted by comparative mapping of the murine osteosclerosis ( oc ) mutation

By Heaney C.  

Human Molecular Genetics, Vol. 7, Iss. 9, 1998-09 ,pp. : 1407-1410

Oxford University Press

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Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal recessive universal congenital alopecia

By Haque S.  

Human Molecular Genetics, Vol. 7, Iss. 11, 1998-11 ,pp. : 1671-1679

Oxford University Press

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The mutational spectrum of the Sonic Hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly

By Nanni Luisa  

Human Molecular Genetics, Vol. 8, Iss. 13, 1999-12 ,pp. : 2479-2488

Oxford University Press

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Molecular mechanisms of autosomal recessive hypercholesterolemia

By Cohen J.C.  

Human Molecular Genetics, Vol. 11, Iss. 24, 2002-09 ,pp. : 3019-3030

Oxford University Press

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Rab8b GTPase, a protein transport regulator, is an interacting partner of otoferlin, defective in a human autosomal recessive deafness form

By Heidrych Paulina   Zimmermann Ulrike   Bre Andreas   Pusch Carsten M.   Ruth Peter   Pfister Markus   Knipper Marlies   Blin Nikolaus  

Human Molecular Genetics, Vol. 17, Iss. 23, 2008-12 ,pp. : 3814-3821

Oxford University Press

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